ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=)

gnomAD frequency: 0.00035  dbSNP: rs371988852
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724027 SCV000231382 uncertain significance not provided 2014-07-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000179176 SCV000613814 benign not specified 2016-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724027 SCV001023668 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000724027 SCV001982926 likely benign not provided 2021-04-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955079 SCV004768317 likely benign ITPR1-related disorder 2019-07-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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